Familial multiple cavernous malformation syndrome

Familial multiple cavernous malformation syndrome(s) are uncommon, accounting for only a minority of cavernous malformations.

It has been more frequently reported in patients of Hispanic descent 1.

The presentation is most commonly with seizures (38-55%) 1 and focal neurological deficits while recurrent large haemorrhages and headaches are less frequently encountered. 

In sporadic cases up to a third of cavernous malformations are multiple. When familial the number of cavernomas is higher, typically five or more 1 and may be as high as dozens and dozens.

Familial cases usually have an autosomal dominant pattern of inheritance with incomplete penetrance 1-2

See: Zabramski classification of cerebral cavernomas

See: cavernous malformations

The differential is that of other causes of cerebral microhaemorrhages, including 2:

MRI appearance may be mimicked by:

  • artificial heart valve metallic emboli (very rare)
  • pneumocephalus (very rare) 3
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Article Information

rID: 6562
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Multiple cavernous malformation syndrome
  • Multiple cavernoma syndrome
  • Autosomal dominant multiple cavernous malformation syndrome

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